Christopher Richmond
6PUBLICATIONS
21CO-AUTHORS
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Publications (6)
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|Jan 29, 2026
A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility.Mounavi Vemula, Bergithe E Oftedal, Dorsa Iraji
|Jul 19, 2025
A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines.Susan M White, Annelotte P Wondergem, Isa Breet
|Jan 09, 2023
Delineating the phenotype of RNU4ATAC-related spliceosomopathy.Amanda Tabib, Christopher M Richmond, Julie McGaughran
|Oct 31, 2022
'Propped and prone' positioning reduces respiratory events in spontaneously breathing preterm infants: A randomised triple crossover study.Christopher M Richmond, Fabian Ring, Lacey Richmond
|Jul 27, 2022
Clinical overlap of PHACE and LUMBAR syndromes.Rachael Davenport, John C Su, Janice Nathalie
|Nov 07, 2019
Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8.Christopher M Richmond, Richard Leventer, Monique M Ryan
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Frequent Collaborators
1 joint publications
Rachael Davenport
1 joint publications
Susan J Robertson
1 joint publications
Amanda Tabib
1 joint publications
Julie McGaughran
1 joint publications
Susan M White
1 joint publications
Maren Dittmaier
1 joint publications
Walter J Chazin
1 joint publications
Robert J Hopkin
1 joint publications
Helene Kvistgaard
1 joint publications
Eliza Phillips
